K22R (p.Lys22Arg) variant of PTH (Parathyroid hormone)
K22R (p.Lys22Arg) in PTH (Parathyroid hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K22R (p.Lys22Arg) variant details
- p.Lys22Arg
- rs1382095004
- gnomAD 11-13492789-ATTTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 23.10
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available